ClinVar

NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47414279 (on Assembly GRCh38)
• Chr2: 47641418 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)

HGVS:

• NC_000002.12:g.47414279C>A
• NG_007110.2:g.16156C>A
• NM_000251.3:c.803C>AMANE SELECT
• NM_001258281.1:c.605C>A
• NP_000242.1:p.Ser268Ter
• NP_001245210.1:p.Ser202Ter
• LRG_218:g.16156C>A
• NC_000002.11:g.47641418C>A
• NC_000002.11:g.47641418C>A
• NM_000251.1:c.803C>A

This HGVS expression did not pass validation

Protein change:

S202*

Links:

dbSNP: rs563410947

NCBI 1000 Genomes Browser:

rs563410947

Molecular consequence:

• NM_000251.3:c.803C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258281.1:c.605C>A - nonsense - [Sequence Ontology: SO:0001587]